Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.
"Rocket" immunoelectrophoresis using specific anti-lecithin: cholesterol acyltransferase (LCAT) antiserum showed no immunoreactive protein in two patients with familial LCAT deficiency. Subnormal quantity of plasma LCAT was found in the maternal grandmother, the parents, and in two of four siblings of the patients (3.3-3.4 mg/l vs. 5.4 +/- 0.5 mg/l in 12 controls). The immunochemical quantitation of the enzyme correlated well (r = .93) with LCAT activity in an artificial substrate assay. These two methods allow detection of heterozygotes for LCAT deficiency.
D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007106:Immune Sera; D005779:Immunodiffusion; D007122:Immunoelectrophoresis; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000235:genetics*; D008297:Male; D010375:Pedigree; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000276:immunology
D007106:Immune Sera; D007862:Phosphatidylcholine-Sterol O-Acyltransferase